Varaico: Literature-Extracted Genetic Variants

ADAMTS13

765 papers

RefSeq Summary

This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enz...

Pfam Domains

Reprolysinaa 81–286UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 301–372UCSCADAMTS cysteine-rich domain 2

TSP_1aa 388–438UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 441–555UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 557–680UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 13

HGNC Alias Symbols

VWFCP; TTP; vWF-CP; FLJ42993; MGC118899; MGC118900; DKFZp434C2322

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_139027.6

p.L1021F

c.3061C>T

Surrounding Variants

1 paper

NM_139027.6

p.S1020S

c.3060C>A

1 paper

NM_139027.6

p.M1019T

c.3056T>C

1 paper

NM_139027.6

p.M1019L

c.3055A>C

1 paper

NM_139027.6

p.M1019L

c.3055A>T

1 paper

NM_139027.6

p.V1018A

c.3053T>C

1 paper

NM_139027.6

p.V1018I

c.3052G>A

9 papers

NM_139027.6

p.C1024R

c.3070T>C

20 papers

NM_139027.6

p.C1024G

c.3070T>G

1 paper

NM_139027.6

p.S1025L

c.3074C>T

11 papers

NM_139027.6

p.W1016*

c.3048G>A

11 papers

NM_139027.6

p.W1016*

c.3047G>A

1 paper

NM_139027.6

p.S1025S

c.3075G>A